Canonical Allele Identifier: CA375694336
Gene: SURF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133353858G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353858G>T , CM000671.2:g.133353858G>T GRCh38
NC_000009.10:g.135210534G>T NCBI36
NG_008477.1:g.7649C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.406C>A MANE Select ENSP00000361042.3:p.Pro136Thr
ENST00000371974.7:c.406C>A ENSP00000361042.3:p.Pro136Thr
ENST00000437995.1:n.352C>A
ENST00000495952.5:n.396C>A
ENST00000615505.4:c.79C>A ENSP00000482067.1:p.Pro27Thr
NM_001280787.1:c.79C>A NP_001267716.1:p.Pro27Thr
NM_003172.3:c.406C>A NP_003163.1:p.Pro136Thr
XM_011518942.1:c.79C>A XP_011517244.1:p.Pro27Thr
NM_003172.4:c.406C>A MANE Select NP_003163.1:p.Pro136Thr